Incidental Mutation 'IGL03209:Hspa12a'
ID |
413251 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hspa12a
|
Ensembl Gene |
ENSMUSG00000025092 |
Gene Name |
heat shock protein 12A |
Synonyms |
Hspa12a, 1700063D12Rik, Gm19925 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.392)
|
Stock # |
IGL03209
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
58784182-58932086 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
T to G
at 58810493 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066860
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066285]
|
AlphaFold |
Q8K0U4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000066285
|
SMART Domains |
Protein: ENSMUSP00000066860 Gene: ENSMUSG00000025092
Domain | Start | End | E-Value | Type |
SCOP:d1bupa1
|
58 |
244 |
4e-14 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts13 |
C |
T |
2: 26,882,973 (GRCm39) |
A841V |
probably benign |
Het |
Alms1 |
A |
G |
6: 85,576,955 (GRCm39) |
|
probably benign |
Het |
Arc |
A |
T |
15: 74,543,833 (GRCm39) |
L130Q |
probably damaging |
Het |
Arhgap28 |
C |
T |
17: 68,175,951 (GRCm39) |
V383I |
probably damaging |
Het |
Atf6 |
T |
C |
1: 170,662,463 (GRCm39) |
S266G |
probably benign |
Het |
Cd59b |
A |
G |
2: 103,914,905 (GRCm39) |
E101G |
probably benign |
Het |
Cdc26 |
T |
C |
4: 62,313,251 (GRCm39) |
K30R |
possibly damaging |
Het |
Clns1a |
A |
G |
7: 97,360,937 (GRCm39) |
D103G |
probably null |
Het |
Crispld2 |
C |
A |
8: 120,757,837 (GRCm39) |
A394E |
possibly damaging |
Het |
Cyp51 |
A |
T |
5: 4,154,195 (GRCm39) |
L38H |
probably damaging |
Het |
Dnah7a |
T |
G |
1: 53,725,773 (GRCm39) |
|
probably benign |
Het |
Fbxw2 |
T |
C |
2: 34,712,675 (GRCm39) |
R129G |
probably damaging |
Het |
Fgd3 |
T |
C |
13: 49,439,294 (GRCm39) |
Q234R |
probably damaging |
Het |
Gdpgp1 |
A |
G |
7: 79,888,847 (GRCm39) |
T293A |
probably damaging |
Het |
Ier5l |
G |
T |
2: 30,363,067 (GRCm39) |
D319E |
possibly damaging |
Het |
Iigp1c |
T |
A |
18: 60,379,143 (GRCm39) |
I226N |
probably damaging |
Het |
Ikzf1 |
T |
C |
11: 11,650,226 (GRCm39) |
V3A |
probably benign |
Het |
Itga2 |
T |
C |
13: 115,017,168 (GRCm39) |
N180D |
probably damaging |
Het |
Lipt1 |
T |
C |
1: 37,914,150 (GRCm39) |
S69P |
probably damaging |
Het |
Lvrn |
A |
G |
18: 47,022,565 (GRCm39) |
I734V |
probably benign |
Het |
Man2c1 |
A |
G |
9: 57,049,114 (GRCm39) |
T871A |
probably benign |
Het |
Ndufs1 |
A |
T |
1: 63,203,896 (GRCm39) |
C129S |
probably damaging |
Het |
Neb |
A |
T |
2: 52,180,831 (GRCm39) |
F1232I |
probably damaging |
Het |
Ngly1 |
T |
A |
14: 16,281,831 (GRCm38) |
Y362* |
probably null |
Het |
Or2h2c |
A |
T |
17: 37,422,413 (GRCm39) |
S154T |
probably benign |
Het |
Or5ak23 |
A |
T |
2: 85,244,723 (GRCm39) |
S167T |
probably benign |
Het |
Patj |
A |
G |
4: 98,353,377 (GRCm39) |
D640G |
probably null |
Het |
Plxnd1 |
A |
T |
6: 115,939,318 (GRCm39) |
M1502K |
probably damaging |
Het |
Sccpdh |
T |
C |
1: 179,514,238 (GRCm39) |
V429A |
possibly damaging |
Het |
Slc25a48 |
T |
C |
13: 56,618,272 (GRCm39) |
V303A |
probably benign |
Het |
Sult2a6 |
T |
C |
7: 13,959,897 (GRCm39) |
D212G |
probably benign |
Het |
Tep1 |
A |
T |
14: 51,078,160 (GRCm39) |
|
probably benign |
Het |
Tmem65 |
A |
G |
15: 58,656,751 (GRCm39) |
|
probably benign |
Het |
Togaram2 |
T |
C |
17: 72,002,740 (GRCm39) |
|
probably null |
Het |
Trim36 |
T |
C |
18: 46,300,575 (GRCm39) |
T687A |
probably benign |
Het |
Unc13b |
T |
A |
4: 43,239,351 (GRCm39) |
D3471E |
probably damaging |
Het |
Urgcp |
T |
C |
11: 5,667,238 (GRCm39) |
|
probably null |
Het |
Zfhx4 |
A |
T |
3: 5,466,231 (GRCm39) |
I2155F |
probably damaging |
Het |
Zfp831 |
T |
A |
2: 174,487,059 (GRCm39) |
V578E |
probably benign |
Het |
|
Other mutations in Hspa12a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01419:Hspa12a
|
APN |
19 |
58,816,681 (GRCm39) |
splice site |
probably null |
|
IGL01516:Hspa12a
|
APN |
19 |
58,816,108 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01766:Hspa12a
|
APN |
19 |
58,787,899 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01986:Hspa12a
|
APN |
19 |
58,787,834 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02138:Hspa12a
|
APN |
19 |
58,816,730 (GRCm39) |
missense |
probably benign |
0.45 |
IGL02170:Hspa12a
|
APN |
19 |
58,793,113 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02576:Hspa12a
|
APN |
19 |
58,787,842 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL02623:Hspa12a
|
APN |
19 |
58,797,983 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02890:Hspa12a
|
APN |
19 |
58,809,431 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03343:Hspa12a
|
APN |
19 |
58,787,828 (GRCm39) |
missense |
probably benign |
0.00 |
R0040:Hspa12a
|
UTSW |
19 |
58,788,056 (GRCm39) |
missense |
probably benign |
0.10 |
R0090:Hspa12a
|
UTSW |
19 |
58,787,941 (GRCm39) |
missense |
probably benign |
0.00 |
R2139:Hspa12a
|
UTSW |
19 |
58,787,914 (GRCm39) |
missense |
probably benign |
|
R4031:Hspa12a
|
UTSW |
19 |
58,789,289 (GRCm39) |
missense |
probably benign |
0.17 |
R4686:Hspa12a
|
UTSW |
19 |
58,788,181 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4914:Hspa12a
|
UTSW |
19 |
58,787,884 (GRCm39) |
missense |
probably damaging |
1.00 |
R5046:Hspa12a
|
UTSW |
19 |
58,787,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R5580:Hspa12a
|
UTSW |
19 |
58,788,092 (GRCm39) |
missense |
probably benign |
0.11 |
R5615:Hspa12a
|
UTSW |
19 |
58,793,082 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5781:Hspa12a
|
UTSW |
19 |
58,810,518 (GRCm39) |
missense |
probably damaging |
0.99 |
R6777:Hspa12a
|
UTSW |
19 |
58,810,519 (GRCm39) |
missense |
probably benign |
0.03 |
R6954:Hspa12a
|
UTSW |
19 |
58,788,124 (GRCm39) |
missense |
probably benign |
0.05 |
R7038:Hspa12a
|
UTSW |
19 |
58,793,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R7151:Hspa12a
|
UTSW |
19 |
58,810,594 (GRCm39) |
missense |
probably benign |
0.07 |
R7249:Hspa12a
|
UTSW |
19 |
58,793,865 (GRCm39) |
missense |
probably benign |
0.27 |
R7677:Hspa12a
|
UTSW |
19 |
58,849,317 (GRCm39) |
missense |
probably benign |
0.01 |
R8110:Hspa12a
|
UTSW |
19 |
58,809,445 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8830:Hspa12a
|
UTSW |
19 |
58,793,895 (GRCm39) |
missense |
possibly damaging |
0.74 |
R8955:Hspa12a
|
UTSW |
19 |
58,788,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R8987:Hspa12a
|
UTSW |
19 |
58,787,903 (GRCm39) |
nonsense |
probably null |
|
R9056:Hspa12a
|
UTSW |
19 |
58,813,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R9147:Hspa12a
|
UTSW |
19 |
58,793,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R9148:Hspa12a
|
UTSW |
19 |
58,793,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R9157:Hspa12a
|
UTSW |
19 |
58,789,292 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9316:Hspa12a
|
UTSW |
19 |
58,793,079 (GRCm39) |
missense |
probably benign |
0.22 |
R9329:Hspa12a
|
UTSW |
19 |
58,789,298 (GRCm39) |
missense |
probably benign |
0.01 |
R9370:Hspa12a
|
UTSW |
19 |
58,813,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R9486:Hspa12a
|
UTSW |
19 |
58,797,891 (GRCm39) |
missense |
probably benign |
0.03 |
|
Posted On |
2016-08-02 |